A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17706172



Internal ID129838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:20339447..20339498hg38UCSC Ensembl
chr16:20350769..20350820hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5532695
Supporting Variants
Samples
Known GenesUMOD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17706172
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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